A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668294



Internal ID9587713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12053911..12066782hg38UCSC Ensembl
chr19:12164726..12177597hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3812872
hg1912872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6430084, essv5521958, essv5698278, essv6184277, essv6332135, essv6330599, essv6361421, essv6527854, essv5606982, essv6207248, essv5400999, essv6399365, essv6059878, essv5626864, essv6180588, essv6432057, essv5808908, essv5786781, essv6582386, essv6479045, essv6003593, essv5897994
SamplesHG00542, HG00671, HG00559, NA18603, NA18988, HG00689, NA18582, NA19075, HG00596, HG00657, HG00556, NA18637, HG00708, HG00692, NA19000, HG00463, NA19012, NA18542, NA18543, HG00607, HG00418, NA19004
Known GenesZNF844
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668294
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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